Name：NTCC? NA00436 Fibroblast DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA00436
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來(lái)源:
Age年齡: 22 YR
Gender性別: Female
Description描述: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
Remarks: XP1NE; near normal post UV unscheduled DNA synthesis; no neoplasias; donor subject is a compound heterozygote for several mutations in the ERCC2 gene: one allele carries a G-to-A substitution at nucleotide 217 (217G>A) which results in a change of Gly-47 to Arg [GLY47ARG (G47R)]; a second allele carries a C-to-G transversion at nucleotide position 1411 (1411C>G) which results in a change of Leu-461 to Val [Leu461Val (L461V), as well as a splicing mutation resulting in the deletion of 45 bases (2224_2268) in the cDNA and the loss of amino acids 716_730 from the protein (DEL 716_730).
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: Fibroblast
Source組織來(lái)源: Fibroblast
Gene: ERCC2
Disease疾病類型:
Mutations突變: 45 bp deletion (c.2224-2268) GLY47ARG LEU461VAL
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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